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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. Marsh DJ, et al. Among authors: ahmed sf. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Ali A, et al. Among authors: ahmed sf. Hum Mol Genet. 2007 Feb 1;16(3):265-75. doi: 10.1093/hmg/ddl454. Epub 2007 Jan 8. Hum Mol Genet. 2007. PMID: 17210674
Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey.
Cherenko M, Appelman-Dijkstra NM, Priego Zurita AL, Biermasz NR, Dekkers OM, Klok FA, Reisch N, Aulinas A, Biagetti B, Cannavo S, Canu L, Detomas M, Devuyst F, Falhammar H, Feelders RA, Ferrau F, Gatto F, Grasselli C, van Houten P, Hoybye C, Isidori AM, Kyrilli A, Loli P, Maiter D, Nowak E, Pivonello R, Ragnarsson O, Steenaard RV, Unger N, van de Ven A, Webb SM, Yeste D, Ahmed SF, Pereira AM. Cherenko M, et al. Among authors: ahmed sf. Endocr Connect. 2024 May 7;13(6):e240046. doi: 10.1530/EC-24-0046. Print 2024 Jun 1. Endocr Connect. 2024. PMID: 38614126 Free PMC article.
518 results